PK DEFICIENCY RESOURCES
Resources
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Agios Understanding PK Deficiency Brochure
This brochure provides an overview of PK deficiency as well as tools to help you work closely with your doctor to proactively manage your condition.
Download for US residents only
Download for EU and UK residents only -
Agios Information for Caregivers Brochure
If you are a parent or caregiver of someone with PK deficiency, this brochure can help you understand the condition and the impact living with it can have on someone's life.
DOWNLOAD THE BROCHURE -
Agios PK Deficiency Doctor Discussion Guide
Keeping track of goals, obstacles, and questions can help make sure you and your healthcare team come up with the right management plan for your PK deficiency. Download this discussion guide to help you get organized, make connections, and advocate for yourself as you prepare to meet with your doctor.
Download the discussion guide
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Agios Living with PK Deficiency: Quick Reference Guide
This guide can be used as a reference for school staff and other adults in your loved one's life to help them understand more about PK deficiency.
DOWNLOAD THE GUIDE -
Monitoring Guide
This guide can help keep track of the recommended tests and follow-up assessments needed for people with PK deficiency so you and your doctor can identify health trends early on.
DOWNLOAD THE GUIDE -
Fast Facts Brochure
Download the Fast Facts brochure for additional in-depth information about PK deficiency.
DOWNLOAD THE BROCHURE -
Agios Find a PK Deficiency Specialist
Download a list of US-based hematologists with experience treating PK deficiency.
DOWNLOAD THE LIST
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Monitoring Flashcard
Use our monitoring flashcard to help track your patients' disease progression over time
Monitoring Flashcard
Use our monitoring flashcard to help track your patients' disease progression over time
DOWNLOAD FLASHCARD
Testing
Get more information about the Anemia ID® genetic testing and counseling program.
For your patients
Explore these tools and share with your patients to help them navigate their PK deficiency.
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Agios Understanding PK Deficiency Brochure
This brochure provides an overview of PK deficiency as well as tools to help you work closely with your doctor to proactively manage your condition.
Download for US residents only
Download for EU and UK residents only -
Agios Information for Caregivers Brochure
If you are a parent or caregiver of someone with PK deficiency, this brochure can help you understand the condition and the impact living with it can have on someone's life.
DOWNLOAD THE BROCHURE -
Agios PK Deficiency Doctor Discussion Guide
Keeping track of goals, obstacles, and questions can help make sure you and your healthcare team come up with the right management plan for your PK deficiency. Download this discussion guide to help you get organized, make connections, and advocate for yourself as you prepare to meet with your doctor.
Download the discussion guide
-
Agios Living with PK Deficiency: Quick Reference Guide
This guide can be used as a reference for school staff and other adults in your loved one's life to help them understand more about PK deficiency.
DOWNLOAD THE GUIDE -
Monitoring Guide
This guide can help keep track of the recommended tests and follow-up assessments needed for people with PK deficiency so you and your doctor can identify health trends early on.
DOWNLOAD THE GUIDE -
Fast Facts Brochure
Download the Fast Facts brochure for additional in-depth information about PK deficiency.
DOWNLOAD THE BROCHURE -
Agios Find a PK Deficiency Specialist
Download a list of US-based hematologists with experience treating PK deficiency.
DOWNLOAD THE LIST
-
MyPKD App
The MyPKD app allows patients to track daily symptoms, save reports, and view and share trends over time.
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Know PK Deficiency Patient Brochure
Give patients access to more information to learn about their symptoms, complications, and daily life with PK deficiency.
MyPKD App
The MyPKD app allows patients to track daily symptoms, save reports, and view and share trends over time
GO TO MYPKD
Know PK Deficiency Patient Brochure
Give patients access to more information to learn about their symptoms, complications, and daily life with PK deficiency
Download the Brochure
Publications on PK Deficiency
PK Deficiency-General
- Al-Samkari H, Shehata N, Lang-Robertson K, et al. Diagnosis and management of pyruvate kinase deficiency: international expert guidelines. Lancet: Haematology. Published online ahead of print Februrary 5, 2024.
- Al-Samkari H, van Beers EJ, Kuo KHM, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management. Haematologica. 2020;105(9):2229-2239.
- Bianchi P, Fermo E, Glader B, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019;94(1):149-161.
- Bianchi P, Fermo E, Lezon-Geyda K, et al. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020;95(5):472-482.
- Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183-2192.
- Grace RF, Layton DM, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721-734.
Transfusion Therapy and Iron Overload
- van Beers EJ, van Straaten S, Morton DH, et al. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica. 2019;104(2):e51-e53.
Anemia ID® is only available to residents of the United States.
All testing provided to patients through Anemia ID is paid for by Agios Pharmaceuticals. While Agios provides financial support for this program, all tests and services are performed by Revvity Omics or InformedDNA. Agios receives contact information for healthcare professionals who submit tests under this program and limited de-identified aggregate data.
Anemia ID is sponsored by Agios in partnership with Revvity Omics. Other laboratories may also offer genetic testing.
All genetic counseling services provided to patients through Anemia ID are paid for by Agios Pharmaceuticals. While Agios provides financial support for this program, all genetic counseling services are performed by InformedDNA. Agios receives contact information for healthcare professionals who request genetic counseling for their patients under this program and limited de-identified data.